PAEDIATRICS 1 Flashcards
What is this?
association?
Tests?
inheritability
Multicystic dysplastic syndrome
- There are multiple, large noncommunicating cysts in the right kidney, compatible with multicystic dysplastic kidney.
- The diagnosis of multicystic dysplastic kidney is often made on fetal ultrasound.
- It is a nonheritable condition.
- The bilateral form is fatal.
-
MAG3 scan:
- a multicystic dysplastic kidney has no excretion.
-
Associations
- contralateral ureteropelvic junction obstruction.
- Spontaneous involution occurs commonly, in up to 60% of cases.
Bacterial pneumonia most common pathogens
- Common pathogens
- Pneumococcus
- S. Aureus
- H. Influenze
- Radiographic features
- consolidation: alveolar exudate, segmental consolidation, lobar consolidation, effusions, penutatocele
- Complications:
- PTX,
- Bronchiectasis.
- Swyer-James syndrome
- (aquired pulmonary Hypoplasia/post infectious bronchiolitis obliterates, radiographically chracateries by small hyperlucent lungs with diminished velds (focal emphysema).
What is this condition?
Pathology?
Clinical presentation
Associations
Hemimegaencephaly
- Intro
- rare
- congenital
- disorder of cortical formation
- hamatomatous overgrowth of all or part of a cerebral hemisphere.
- either from increased proliferation or decreased apoptosis of developing neurons (or both).
- Epi
- Cryptogenic congeital disorder and does not have a recognised racial or gender predilection. Rare only found in 0.2% cases of epilepsy.
- Presentation
- 90% of patients present with focal generalised infantile spasms.
- Developmental delay, hemiparesis, hemianopia are also evident.
- may be normocephalic, macrocephaly may be pronounced.
- No raised ICP.
- THREE TYPES
- Isolated
- Syndromic
- epidernal naevus
- Klippel trenaunay
- Macune albright
- Proteus
- Unilateral hypomelanosis of Ito
- NF1
- Tuberous Sclerosis
- CLOVES
- Total hemimegalencephaly
- hemihypertrophy also involves the brainstem and cerebellum.
Wolffian Duct
- anlage for vas deference, seminal vesicles, epididymis
- guides ureteral migration to bladder.
- induces kidney development and ascent
- induces mullerian duct development in females.
What pulmonary disease is this patient likely to develop?
- LAM
- Lymphangioleiomyomatosis
- progressive cuystioc lung diease
- growth of smooth muscle cells
- results in obstructed lymphatics, venules and small airways
- Can lead to respiratory failure.
What is this?
- Diffuse Intrinsic Pontine glioma
- 15% of primary CNS tuymours in children
- Pons most common location (80%) of cases.
- Poor prognosis (accont for 38% of deaths from primary brain tumours)
- Median survival of less than 12 months.
- Clinical presentation:
- large mass. relatively acute onset (ie one month)
- Cranial nerve deficit, ataxia, long tract signs
- Obstructive hydrocephalus 2ndry to compression of the fourth ventricle.
Kartegners Syndrome
- dextrocardia
- muco clilary dyskinesia
Extrusion index
percentage measure of boney coverage of the femoral head by acetabulum in patients iwht fullly matured femoral epiphgysese. A vaule of less than 25% has been reported as normal. The great3er the degree of acetabular dysplasia, the greater the extrusion.
Triad of this condition
Associations
part of which spectrum
what is this sign?
Septo-optic dysplasia (SOD)
- AKA
- de Morsier syndrome
- optic nerve hypoplasia
- absence of the septum pellucidum
- hypothalamic-pituitary dysfunction (2/3 of pts)
- part of the holoprosencephalyspectrum
- Associations:
- 50% a/w schizencephaly
- Types:
- No schizencephaly
- visual apparatus more severely affected
- hypothalamic-pituitary dysfunction present in 60-80% of patients
- may present as hypoglycaemia in the neonatal period
- small pituitary gland with hypoplastic or absent infundibulum
- ectopic posterior pituitary seen as a focus of T1 high signal intensity in the median eminence of hypothalamus
- olfactory bulbs may be absent (Kallmann syndrome)
- associated with schizencephaly
- optic apparatus less severely affected
- cortical anomalies:
- polymicrogyria,
- cortical dysplasia
- may be aetiologically different
- sometimes referred to as septo-optic dysplasia plus
- No schizencephaly
- In addition, a number of other associations are recognised including:
- rhombencephalosynapsis
- Chiari II malformation
- aqueductal stenosis
Selected image of coronal T2-weighted sequence showed the normal olfactory nerves (within the red cycles).
Selected image of coronal T2-weighted sequence showed point-down appearance of the anterior horns of the bilateral lateral ventricles (red arrows).
Selected image of sagittal T1-weighted sequence showed the ectopic posterior pituitary gland at the roof of the third ventricle (red circle).
Case Discussion
This is a case where most of the septo-optic dysplasia features are nicely demonstrated.
Hypoplastic optic nerves and chiasm, absence septum pellucidum with resultant typical configuration of the anterior horns of the lateral ventricles, along with ectopia of the posterior pituitary gland. On the other hand, the globes are intact and the olfactory bulbs are present with no evidence of associated parenchymal abnormality.
- what percentage of bone tumours are______?
- What percentage of benign bone tumors?
- when do they develop?
- syndrome associations (2)?
- Complication?
Osteochondromas
- 10-15% of all bone tumours
- approximately of 35% of all benign bone tumours.
- Develop during child hood.
- Can present at any age and are most frequently found incidentally.
- The are usually sporadic, but can be part of:
- hereditary multiple exotoses (HME) also known as diapheal aclasis
- Trevor disease: dysplasia eiphysealis hemimelica Malignant trasnformation occurs in the carilage cap, and is cuncommon in sporadic solidaty osteocondromasr(1%), whereas in the setting of hereditary multiple exotosese the rate is much higher (5-25%).
Duplication cyst
Bowel wall signature cyst like structure
There is a lobulated mass within the right globe that is T1-hyperintense and heterogeneously T2-hypointense relative to vitreous fluid, and which displays restricted diffusion and contrast enhancement. There is retinal detachment with associated hemorrhage, resulting in a fluid/fluid level in the right globe seen on the T2-weighted images.
Retinoblastoma is the most common intraocular childhood malignancy, with a median presentation of 12 months. It can be sporadic (approximately 60% of cases), which requires two spontaneous mutations of the retinoblastoma protein tumor suppressor gene (RB), or it can be familial, due to a single spontaneous mutation in combination with an inherited germline mutation.
Retinoblastomas appear as mixed calcified and noncalcified soft-tissue intraocular masses. CT and ultrasound are good for depicting intralesional calcifications. On MRI, they will appear as a T1-hyperintense, T2-hypointense mass relative to vitreous fluid. Retinoblastomas will restrict on diffusion imaging given that they have a high cellular content as they fall within the class of small blue round cell tumors. The contralateral globe, pineal region, and suprasellar regions need to be carefully evaluated for the presence of additional sites of disease.
Coats disease is characterized by progressive retinal detachment by exudative sub retinal collections and is not typically associated with enhancement, restricted diffusion or calcification.
A coloboma is congenital malformation characterize by failure of closure of the choroidal fissure and is seen as a small globe with a posterior defect with vitreous herniation.
Astrocytic hamartomas are benign retinal tumors associated with tuberous sclerosis.
Retinopathy of prematurity is found in premature infants and seen as vascular proliferation with asymmetrically small globes.
which lobes most commonly affected?
M:F ratio
- 1° or 2°
- LUL - RML - RUL
- On imaging, it classically presents on chest radiographs as a hyperlucent lung segment with overinflation and contralateral mediastinal shift.
- ASSOCIATIONS
- aberrant left pulmonary artery 7 and also with congenital heart defects:
- ventricular septal defect (VSD)
- patent ductus arteriosus (PDA)
- tetralogy of Fallot (ToF)
- Image description
- Hyperinflation and poor vascularisation of left upper lobe with contralateral mediastinal shift to the right side. Attenuated lobar bronchi to the left upper lobe. Subsequent mass effect in the form of mediastinal displacement to the right side. Findings are matching with congenital lobar overinflation of the left upper lobe.
- Congenital lobar overinflation (CLO), previously called congenital lobar emphysema, is a congenital lung abnormality that results in progressive overinflation of one or more lobes of a neonate’s lung. It is more common in males (M:F = 3:1). The left upper lobe is the most commonly affected, 40-45%.
DDH definition
Aberrant development of the hip joint, from the abdnormal relationship of the femoral head to the acetabulum. Clear female predominance. Usually occurs from ligamentous laxity and abnormal position in utero. More comon in oligohydramniotic pregnancies.
what is this
- tracheomalacia
Collpase of the trachea with expiration. May be focal or diffuse. - focal type is usually secondary to congential anomalies the impress on the trachea (ie vascular ring).
Hepatoblastoma
- embroynal hepatic neoplasm
- Age <5 elevated alpha-fetoprotein lv
- Hypoenhancing heterogenous mass coarse calc
Urachus
- the umbilical attachment of the bladder (initially allantois then urachus).
- Usually, atrophies (umbilical ligament) as the bladder descends into the pelvis. Persistent canalization of the urachus may lead to urine flow from the bladder to the umbilicus
- Tumors: adenocarcinoma, yolk sac tumor adenoma, fibroma
- Urachal cyst: may splay umbilical arteries on prenatal Doppler USS>
what are Testicular mixed germ cell tumours
- testicular tumours composed of two or more types of germ cell tumour
- part of the NSGCT group
- 10% of all testicular cancers
Testicular mixed germ cell tumours are, as the name suggests, testicular tumours composed of two or more types of germ cell tumour. They are considered to be part of non-seminomatous germ cell tumours, as it is that component which dictates prognosis and treatment.
Overall they account for over 10% of all testicular cancers (15% of all testicular germ cell tumours which account for 90% of all testicular cancers) 1.
Epidemiology, clinical presentation, and radiographic features will correspond to the components of the tumour. Treatment and prognosis will be dictated by the most malignant component. Please refer to:
- testicular seminoma
- testicular embryonal cell carcinoma
- testicular choriocarcinoma
- testicular yolk sac tumour
- testicular teratoma
Hypoxic-ischaemic injury to gray matter (thalami and lentiform nuclei) demonstrates characteristic T1 hyperintensity and T2 hypointensity
Neonatal hypoxic-ischaemic encephalopathy (HIE) is the result of a global hypoxic-ischaemic brain injury in a term neonate, usually after asphyxia.
Terminology
It is important to remember that neonatal encephalopathy may result from a variety of conditions and hypoxic-ischaemic brain injury is the most important of them 1. Consequently, both terms are frequently used as synonyms.
Epidemiology
Hypoxic-ischaemic encephalopathy is one of the most common causes of cerebral palsy and other severe neurological deficits in children, occurring in 2-9 of every 1000 live births.
Clinical presentation
The encephalopathic neonate may have low Apgar scores at delivery and metabolic acidosis documented in the cord blood. Within the first 24 hours of life, the infant may develop symptoms of apnoea and seizures with abnormal electroencephalographic (EEG) results.
Pathology
The lack of sufficient blood flow, in conjunction with decreased oxygen content in the blood (perinatal asphyxia), leads to loss of normal cerebral autoregulation and diffuse brain injury. The exact nature of the injury depends on the severity of hypotension and the degree of brain maturation. In general, the myelinated areas are more metabolically active and express more glutamate receptors (NMDA receptors), which make them more vulnerable to HIE due to excitotoxicity.
Radiographic features
In term infants blood flow is ventriculofugal and changes are mainly, like in older children, in watershed-border zones; namely, parasagittal grey matter and subcortical white matter. Profound HIE in term babies results in thalamic and basal ganglia as well as sensorimotor cortex (perirolandic region) injury.
Ultrasound
Sonography is sensitive for the detection of haemorrhage, periventricular leukomalacia, and hydrocephalus. Resistive index (RI) of the middle cerebral arteries, if correlated with gestational age, can add more information. Severe HIE results in loss of autoregulation and increased RI.
CT
CT is the least sensitive modality for evaluation of HIE because of poor parenchymal contrast resolution in the neonatal brain due to the high water content of the parenchyma and high protein content of the CSF.
MRI
MRI is the most sensitive and specific imaging technique for examining infants with suspected hypoxic-ischaemic brain injury. Conventional sequences can help exclude other causes of encephalopathy such as haemorrhage, cerebral infarction, neoplasms, or congenital malformations.
A number of patterns of injury are encountered (see patterns of neonatal hypoxic-ischaemic brain injury) depending on the stage of brain maturation and severity of asphyxia, with the following expected signal intensity changes:
T1
grey matter: hyperintense
white matter: hypointense
T2
grey matter: variable depending on the time of imaging and presence of haemorrhage
white matter: hyperintense
DWI/ADC
diffusion restriction first week
ADC pseudonormalisation occurs at the end of the first week
Types of Congenital Diaphragmatic hernia.
- Bochdaleck hernia (90%) - 75% on the left, 25% on the right. - right sided hernias are more difficult to detect because of similar echogenicity of liver and lung. - Contents of hernia: Stomach, colon, small intestine, malrotation of herniated bowel is common.
- Morgagni hernia (10%)L anterior - most occur on the right (heart prevents development on the left) - Most common hernia contents (omentum, colon)
- Eventration. Caused by a relative abscence of muscle in dome. Associated with T13, T18, Congential CMV, rubella athrogryposis multiplex, pulmonary Hypoplasia. Radiographic features - hemidiaphrgam not visualised Multicystic mass in chest Mass effect.
Shenton line
drawn along the inferior border of the superior pubic ramus and should continue laterally along the inferomedial aspect of the proximal femur as a smooth line. If there is a superolateral migration of the proximal femur due to DDH, then this line will be discontinueous.
Umbilical Venous Catheter
passes directly superiorly, remains relatively anterior in the abdomen. Passes thru the umbilicus, umbilical vein, left portal vein, ductus venous, middle or left hepatic vein, into the the IVC. The tip should lie at the junction of the IVC and right atrium. (ie T8 level).
Neurofibromatosis 1
- Intro/AKA
- Epid
- Genetics/heritance
- diagnostic criteria
- Associatations
- malignancies
- Intro:
- aka Von Recklinghausen Disease
- Multisystem neurocutaneous disorder
- Most common Phakomatosis
- RASopathy.
- One of the most common inherited CNS disorders,
- Autosomal dominant disorders and inherited tumour syndromes
- EPID
- 1/2500
- In half of these cases inherited as an AD condition. otherwise is a De novomutation
- 100% penetrance by 5 years of age.
- CLINICAL PRESENTATION.
- Two or more of the following are required.
- >6 cafe au lait spots
- Two or more neurofibromas or one plexiform NF
- Optic nerve glioma
- Distinictive osseous leions (sphenoid wing dysplasia or thinning of long bone cortex with or without pseudoarthrosis.
- Two or more iris hamatomas (lisch nodules)
- Axillary or inguinal freckling.
- May have RAS, learning disabilities
- NF1 has a much earlier onset than NF2.
- Two or more of the following are required.
- Associations
- phaeochromocytoma
- Malignant peripheral nerve sheath tumour *MPNST*
- Wilms
- Rhabdomyosarcoma
- Renal angiomyolipoma
- Glioma
- Juvenile pilocystic astrocytoma
- Optic nerve glioma
- Diffuse brainstem glioma
- Spinal asrtrocytoma. Spinal pilocytic asrtrocytoma
- Carcinoid tumours
- Leiomyomas
- Leiomyosarcoma
- Ganglioglioma
- Leukaemia
- PATHOLOGY
- NF1 gene on chromosome 17q11.2.
- gene product is neurofibromin. which is a tumour suppressor of the Ras/MAPK pathway. Inactivation predisposes to tumour development. Therefore a RAS-opathy.
- Hamatomatous disorder that involves the ectoderm and mesoderm
- Usually 3 types of NFs occur in this disorder and are distinguished on the basis of their gross and
Intrinsic Lower Airway obstruction
- includes dynamic processes such as
- tracheomalacia
- tracheal stenosis
- foreign bodies
- focal masses
- hemangiomas
- Tracheal papilloma
- Tracheal granuloma
- Includes dynamic processes such as
- tracheomalacia
- wall softening related to an abnormality of the cartilaginous rings of the trachea.
- Primary or secondary
- the intermittent collapse of the trachea
- tracheal stenosis
- foreign bodies
- focal masses
- hemangiomas
- most common in the subglottic region
- associated with facial hemangiomas in a beard distribution and appear on the AP xray with asymmetric subglottic narrowing.
- Tracheal papilloma
- Tracheal granuloma
- hemangiomas
- tracheomalacia
CF
- Bronchiedasis
- > (i.e. arrow up) Inflation
- tree in budd
- +/- Central line
Urachus
- the umbilical attachment of the bladder (initially allantois then urachus).
- Usually, atrophies (umbilical ligament) as the bladder descends into the pelvis. Persistent canalization of the urachus may lead to urine flow from the bladder to the umbilicus
- Tumors: adenocarcinoma, yolk sac tumor adenoma, fibroma
- Urachal cyst: may splay umbilical arteries on prenatal Doppler USS>
Testicular Cancer
affects which age group?
what is the most common tumour type?
which tumours affect which ages?
risk factors?
- most common neoplasm in men between the ages of 20 and 34 years
- over 90% are primary GCTs
- Stratified by age
- 1st decade: Yolk sac tumour, testicular teratoma
- 2nd decade: choriocarcinoma
- 3rd decade: embryonal cell carcinoma
- 4th decade: seminioma
- > 7th decade: lymphoma (usuall NHL) or spermatocytic seminoma
- Risk factors
- Cryptoorchidism
- Klinefelfter sydrome
- fhx
- radiation
- Phx
- HIV, Mups
- Microlithisias
- hypospadia
- Types
- Primary
- Testiscular GCT 90% of priomary tumours
- Testicular seminoma 40%
- NSGCT (60%)
- Testicular MGCT
- testicular embryonal cell carcinoma
- Testicular teratoma
- Testicular yolk sac tumour
- Testicular choriocarcinoma
- Testicular NGCT
- Sertoli cell tumour
- Leydig cell tumour
- Granulosa cell tumour
- Fibnoma techoma tumour
- Primary testicular lymphoma
- Testiscular GCT 90% of priomary tumours
- Secondary testicular tumour
- Secondary testicular lymphoma
- Testicular leukaemia\
- Mets
- Primary
- The main types of germ cell tumors (GCTs) in the testicles are seminomas and non-seminomas. These types occur about equally. Many testicular cancers contain both seminoma and non-seminoma cells. These mixed germ cell tumors are treated as non-seminomas because they grow and spread like non-seminomas.
what is a Bronchopulmonary foregut malformation
what conditions does this term encompass?
- Bronchopulmonary foregut malformation (BPFM) is a term that encompases:
- congenital pulmonary airways malformation (CPAM)
- pulmonary sequestration
- hybrid lesion
- foregut duplication cysts
- bronchogenic cyst
- neurenteric cyst
- enteric cyst
- Embryology
- anomalous budding of the embryonic foregut and tracheobronchial tree
- Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 8277
How common is this condition?
What age group?
What are the 5 associated syndromes?
Elevated tumour marker is?
Hepatoblastoma
- Most common symptomatic liver tumor in children under 5.
-
Associations:
- Beckwith-Wiedemann syndrome,
- Gardner syndrome,
- familial adenomatosis polyposis,
- type 1A glycogen storage disease, and
- trisomy 18.
-
Imaging Findings:
- hemorrhage,
- necrosis, and
- calcifications,
- they can invade portal or hepatic veins.
- On ultrasound, they classically have a “spoke wheel” appearance.
-
Metastasis
- Hepatoblastomas most commonly metastasize to lungs.
-
Image description:
- There is a well-circumscribed, lobulated mass centered in the right hepatic lobe with heterogeneous T1-hypointense and T2-hyperintense signal and also enhancing areas as well as nonenhancing necrotic areas.
- The clinical history and imaging characteristics are most consistent with a hepatoblastoma.
- Hepatocellular carcinomas tend to manifests after age 5 and in children with underlying liver disease.
- Mesenchymal hamartomas are seen in children younger than 5 but are predominantly cystic masses, where the portal vein feeds a branch of tumor.
-
Clinical
- Hepatoblastomas typically manifests as an enlarging abdomen and hepatomegaly, and they may result in anorexia and weight loss.
-
Tumor Markers
- Hepatoblastomas are associated with elevated AFP in 90% of cases.
- They have been known to secrete human chorionic gonadotropin (HCG) and can manifest with features of precocious puberty in boys.
Ddx Posterior mediastinal tumours
6
When do they occur?
Benign or malignant?
- Neuroblastoma
- Glanglioneuroma
- NF
- Neurenteric cysts
- Meningoceles
- Extramedullary hematopoeisis
- Approximately 90% of posterior mediastinal masses in children are of neurogenic origin
- These include
- ganglion cell tumors,
- nerve sheath tumours
- nerve tumors
- paragangliomas
- Most posterior mediastinal tumors in children are ganglion cell tumors.
- These tumors arise from sympathetic chain ganglia.
- spectrum of disease ranging from:
-
Neuroblastoma
- median age of 2 years
- most aggressive
-
ganglioneuroblastoma
- median age of 5.5 years
- less aggressive
-
ganglioneuroma
- after 10 years of age
- benign
-
Neuroblastoma
-
All three have similar radiologic features.
- On conventional radiography these tumors appear as a vertically elongated mass with tapered superior and inferior margins (Fig. 3).
- The lateral margin is usually smooth and convex.
- About 30% contain calcification.
- Bone changes include spreading and erosion of ribs and widening of neural foramina[3].
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2967153/#:~:text=Most%20posterior%20mediastinal%20tumors%20in,aggressive%2C%20ganglioneuroblastoma%20and%20benign%20ganglioneuroma.
What is this?
What is the anatomic name for it?
Which pathogen?
What age?
Xray signs?
Croup
- AKA
- Subglottic laryngotracheobronchitis.
- Pathogen
- parainfluenza virus.
- Age:
- 6months to 3 years (ie younger age group than epiglottisits)
- Clinically:
- barking cough
- upper respiratory tract infection,
- self limited
- Xray:
- Subglottic narrowing (inverted V sign on AP)
- Steeple sign
- Lateral view should be obtained to exclude epiglottitis.
- Steeple sign:
- loss of subglottic shoulders.
- Epiglottitis may mimic croup on AP view
What is a Pulmonary sequestration?
AKA
What types are there?
what are the Radiological features?
Complicaitons?
Pulmonary sequestration
- AKA
- accessory lung,
- Definition
- aberrant formation of segmental lung tissue that has no connection with the bronchial tree or pulmonary arteries.
- It is a bronchopulmonary foregut malformation (BPFM).
- There are two types:
- intralobar sequestration (ILS)
- accounts for the majority 75-85% of all sequestrations
- present later in childhood with recurrent infections
- extralobar sequestration (ELS)
- less common 15-25% of all sequestrations
- usually present in the neonatal period with respiratory distress, cyanosis, or infection
- recognised male predilection M: F ratio ~4:1
- can be infradiaphragmatic in ~10% of cases
- intralobar sequestration (ILS)
- Imaging features
- Large >5cm,
- mass near diaphragm
- Air fluid level if infected
- Surrounding pulmonary consolidation
- May communicate with GIT (BFM).
- Plain radiograph
- often show a triangular opacity in the affected segment
- may show cystic spaces if infected
- both ILS and ELS can rarely have air bronchograms as they may acquire a connection to the bronchial tree due to an infective process or, rarely, they can have foregut communication (oesophagus or stomach) as part of hybrid lesion
what is Sever’s disease
age group
pathology
xray findings
- Calcaneal apophysitis.
- Common cause of heel pain
- particularly in young and physically active people.
- Pathology: repetitive microtrauma to growth plates of the calcaneus.
- Foot xray usually normal.
Sclerosis and fragmentation of the calcaneal apophysis are seen on both sides.
Case Discussion
Sever disease is a type of the non-articular osteochondrosis of the calcaneal apophysis. Foot radiograph findings in Sever disease have low sensitivity and specificity because those with Sever disease may not have it, thus radiological identification of calcaneal apophysitis without the absence of clinical information is not reliable. The main differential is normal fragmentation of the calcaneal apophysis.
What is a Cloaca?
related condition?
- The cloaca is the terminal portion of the hindgut.
- It is an embryonic structure (weeks 4-7) in which the distal ends of the gastrointestinal tract and urogenital system share a common channel.
- The most distal aspect of the cloaca is termed the cloacal membrane.
- The cloaca, or portions of it, can persist after birth and contribute to congenital urinary anomalies.
- This developmental anomaly occurs in females only.
- Divided by cloacal (urorectal) septum into:
- a dorsal portion (rectum)
- a ventral portion (allantois)
- atrophies as umbilical ligament, bladder, urogenital sinus (pelvic and phallic portions)
- Wolffian and Mullerian ducts drain into the ventral portion of the cloaca
- Cloacal exstrophy (CE) is an extensive congenital abdominal wall defect which encompasses:
- exstrophy of the bladder
- omphalocele
- lower abdominal wall defect
Causes of Pneumomediastinum
7
- Airway obstruction (ie FB)
- Mechanical ventilation
- Obstructive lung disease (Macklin effect)
- Trauma
- Vomiting
- Spontaneous
- Infection (mec asp, pneumonia)
What is this?
Cause?
Pathophys?
DDx
- Usually age <8years
- Pneumococcal pneumonia
- in early consolidative phase
- Pneumonia appears round because of poorly developed collateral pathways (pores of Kohn and channels of lambert)
- With time the initially round pneumonia develops into a more typical consolidation.
- The infective agent in round pneumonia is bacterial.
- There is no specific bacterium that causes round pneumonia, but since Streptococcus pneumoniae is the most common cause of chest infection, it is little surprise that it is the leading cause of round pneumonia
- Haemophillus influenza is also a causative organism
- Plain radiograph
- Round pneumonias are round-ish and while they are well-circumscribed parenchymal opacities, they tend to have irregular margins.
- They most commonly occur in superior segments of lower lobes
- in the majority of cases (98%), they are solitary.
- Air bronchograms are often present though are only seen in 17% of cases when they occur in adults
- DDx
- pulmonary masses
- bronchogenic cyst
- neuroblastoma
- type III CPAM
- pulmonary metastases
- pleural fibroma
- fungal infection
- Case courtesy of Dr Yusra Sheikh, Radiopaedia.org, rID: 68757
DDx of enlarged epiglottis or aryepiglottic folds
what is the dx in this picture?
- caustic ingestion
- Hereditary angioedema (pictures)
- Omega-shaped epiglottis
- Stevens Johnson syndrome.
A 33-year-old female with hereditary angioedema (HAE). Soft tissue swelling of the neck during recurrent angioedema attacks.
a The patient complained of neck swelling. Lateral radiograph of the neck shows thickening of the retropharyngeal soft tissue (asterisk), enlargement of the epiglottis with narrowing of the vallecula (large arrow), and thickening of the aryepiglottic folds (small arrow).
b Six months later, the patient again complained of neck swelling and swallowing difficulty. Lateral view of the neck plain film shows enlargement of the epiglottis (large arrow, thumb sign) and thickening of the aryepiglottic fold (small arrow). No retropharyngeal soft tissue thickening is noted
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4035492/?report=classic
What is the Mullerian duct?
- Forms entire female genitalia except the distal third of the vagina.
- Crossed fused Renal Ectopia
- 1/1000
- M:F 2:1
- 90% of crossed renal ectopia are fused.
Case courtesy of Dr Mohamed Morsi, Radiopaedia.org, rID: 52893
- Definition
- Epid
- Clinical presentation.
- Pathology
- Imaging findings
- Treatment.
Aqueduct Stenosis
- DEFINITION
- THe most common cause of congenital obstructive hydroicephalus. Can also be an aquired abnormality in adults.
- EPID
- 1/5000.
- May be inherited in x-linked recessive manner (bickers adams edwards syndrome)
- CLINICAL PRESENTATION:
- Infant with enlarging head size, bulging fontanellels and gaping cranial suterus
- Setting sun phenomemon
- BAE Syndrome: profound intellectual disability, bilateral adducted thumbs
- Raised ICP, chronic hydrocephalus (HA, vomiting, decreased conscious state).
- PATHOLOGY
- Congential
- aqueductal webs (image) or diaphragms
- Gliosis
- Acquired
- extrinsic compression
- Tectal plate glioma
- pineal tumour
- posterior fossa tumor
- Cerebral vascular malformation
- Intrisnic
- Infection: meningitis/ventriculitis
- SAH.
- extrinsic compression
- Congential
- IMAGING FINDINGS:
- MRI/USS
- may have normal posterior fossa
- fetal hydrocephalus
- thinning of the cortical mantle
- Macrocephaly
- enlargement of the lateral and 3rd ventricles
- Aqueduct funneling.
- Normal 4th ventricle.
- +/-Web.
- MRI/USS
- TREATMENT:
- third ventriculostomy
- VP shunt
Skeletal\ LCH
- Epid
- clinical presentation
- Sites of disease
- Radiographic features
- Definition
- Langerhans cell histiocytosis (LCH) is a disorder that primarily affects children, but is also found in adults of all ages. People with LCH produce too many Langerhans cells or histiocytes, a form of white blood cell found in healthy people that is supposed to protect the body from infection.
- EPID:
- Skeleton is the most commonly involved organ system in LCH and is the most common location for single lesion LCH AKA eosinophilic granuloma.
- in 60-80% of cases it is the only organ system invollved.
- Male to female 2:1.
- CLINICAL PRESENTATION:
- Lesions may be asymptomatic or patient may present with pain, swelling tenderness, general malise, fever with leukocytosis.
- PATHOLOGY:
- proliferation of langerhans cells with increased eosinophils, lymphocutes and neutrophils. These cells produce prostaglandins which result in medullary bone resorption causing the symptoms.
- SITES
- skull 50%
- pelvis 23%
- femur 17%
- Ribs 8%
- humerus, mandible 7%
- RADIOGRAPHIC FEATURES:
- Skull:
- punched out lytic lesions without sclerotic rim. Double contour or beveled edge appeearance may be seen due to asymmetrical involvement of the inner and out tables (hole within a hole sign).
- Button sequestrum representing residual bone.
- Geographic skull
- Mandible:
- irregular radiolucent areas mostly involving superficial alveolar bone.
- Floating tooth: loss of lamina dura
- Spine
- Vertebra plana
- Long bones:
- permeative and aggressive appearing lesion
- Diaphysis or metadiaphysis and respects growth plates.
- Endosteal scalloping, periosteal reaction (in healing phase it can appear as solid benign periosteal reaction), cortical thinning, intracortical tunneling and associated soft tissue mass.
- Skull:
- DDX
- OM
- Round blue cell tumours
- mets
- primary bone tumour
- lymphoma/leukaemia
DDx for asymmetric lucent lung
MNEMONIC
- SAFE POEM
S: Swyer-James syndrome
A: agenesis (pulmonary)
F: fibrosis (mediastinal)
E: effusion (pleural effusion on the contralateral side)
P: pneumonectomy/pneumothorax
O: obstruction
E: embolus (pulmonary)
M: mucous plug
What is a Paradoxical embolus?
What can it cause?
(Paeds tute 10.9.20)
ASD
Cause of infarct or brain absess
Paradoxical Embolism (PDE) occurs when a thrombus crosses an intracardiac defect into the systemic circulation. Patients may present with symptoms based on the site of the resultant embolization. These sites can include the brain, heart, gastrointestinal tract, or extremities
What is PHACES syndrome?
- PHACES
- posterior fossa malformations
- hemangiomas
- arterial anomalises
- co-arctation of aorta.
- eye abnormalities
- Eitiology
- unknown.
- It appears to occur randomly (sporadically) for no known reason.
- There have not been reports of the disorder occurring in multiple members of the same family.
- Some researchers believe that the disorder results from an unknown postzygotic somatic mosaic mutation.
- Epidemiology
- PHACE syndrome affects more females than it does males, although researchers are not exactly sure why this is the case.
- DDx
- Sturge weber syndrome = capilary malformation (port wine stain in V1 distribution)
- eyes
- brain
- PHACES = haemangioma
- Sturge weber syndrome = capilary malformation (port wine stain in V1 distribution)
-
Difference between vasuclar malformations and haemangioma:
- Both vascular tumors and malformations may occur anywhere on the body.
- hemangiomas
- vascular tumors that are rarely apparent at birth, grow rapidly during the first 6 months of life
- involute with time
- do not necessarily infiltrate
- but can sometimes be destructive.
- Vascular malformations
- are irregular vascular networks defined by their particular blood vessel type.
- In contrast to hemangiomas, they are present at birth, slow growing, infiltrative, and destructive.
- Almost all vascular malformations and nearly 40% of hemangiomas eventually require intervention.
What is the Germinal Matrix?
Where is it?
What pathology can occur here?
What are the complications?
Who does it occur to?
- GM is a fetal structure that is a stem source for NEUROBLASTS.
- Typically involutes by term but is still present in prem infants within the Caudothalamic groove.
- Highly vascular and subject to hemorrhage with fluctuation in cerebra blood pressure.
- Hx most commonly occues in premature infants during the first days after birth.
- Complications include
- destruction of the precursor cells within the geminal matrix
- hydrocephalus
- hemorrhagic infarction of the surrounding periventricular tissues
Child with Rash and adenopathy
- Cystic Lung lesions
- Rash and adenopathy
- Findings consistent with LCH
- Look for bevelled edge lytic skull lesion
What do you suspect in this child with LRTI which hasn’t responded to first line abx?
- Mycoplasma Pneumoniae
- chronicity often post amoxyl non-responder
- usually reticular, uniloabr Interstitial and airspace oppacity
- https://pubs.rsna.org/doi/10.1148/radiographics.21.1.g01ja10121
- Moya moya
- infarcts and spidery vessels
- Case courtesy of Dr Abdallah Al Khateeb, Radiopaedia.org, rID: 50636
- Epidemiology
Moyamoya is a disease of children and young people, with a bimodal age distribution 6:
early childhood: peak ~4 years of age (two-thirds)
middle age: 30-40 years of age (one-third)
The condition was initially described in Japanese patients, where it is still most common, in which 7-10% of cases are familial.
Moyamoya disease affects the bilateral distal ICA and circle of Willis. Up to 18% of patients with moyamoya may present with unilateral angiography-documented disease 8.
Small abnormal net-like vessels proliferate giving the characteristic “puff of smoke” appearance on direct angiography. CTA and MRA are not always able to demonstrate this appearance on account of lower flow and spatial resolution.
Although classically described affecting the ICA, over 50% of patients also have involvement of the posterior cerebral arteries.
Generalised cerebral atrophy is a common finding.
Watershed infarcts are also commonly seen.
Cerebral haemorrhage is more likely to occur in adult patients, patients with collateral circulation where perfusion has normalised such as long-term post bypass surgery or patients with extensive choroidal collaterals, advanced Suzuki stage, fetal-type PCA, patients with previous haemorrhage or microbleeds, and patients with ACA occlusion 13.
What is this?
Definition
Pathology
Association
- Progressive overdistention of one or more pulmonary lobes but usually not the entire lung.
- 10% of patients have congenital heart disease (PDA and VSD)
- Case Discussion
- Congenital lobar emphysema (CLE) is the overinflation of one or more lung lobes, present from birth with a lung histologically normal.
- The left upper lobe is most frequently affected.
- The causes are varied but are all linked to an abnormal intrauterine development.
- The common mechanism includes obstruction of a lobar or segmental bronchus with valve mechanism that results in gas trapping with overdistension of the lung and tissue destruction.
- Acknowledgment: Dr Maurizio Salvi.
- Epidemiology
- Congenital lobar overinflation is more common in males (M: F = 3:1) 5.
- Associations
- Congenital lobar overinflation may be associated with an aberrant left pulmonary artery 7 and also with congenital heart defects:
- ventricular septal defect (VSD)
- patent ductus arteriosus (PDA)
- tetralogy of Fallot (ToF)
- Congenital lobar overinflation may be associated with an aberrant left pulmonary artery 7 and also with congenital heart defects:
- Case courtesy of Dr Domenico Nicoletti, Radiopaedia.org, rID: 37234
- what is this?
- epidemiology
- clinical features
- what do you look for in bilateral wilms?
- Wilms tumour
- AKA
- nephroblastoma
- epid
- most common cancer of the kidneys in children.
- Wilms’ tumor most often affects children ages 3 to 4 and becomes much less common after age 5.
- Wilms tumours are the most common paediatric renal mass, accounting for over 85% of cases
- account for 7% of all childhood cancers
- When part of a syndrome they occur even earlier, typically between 2 and 24 months of age 1.
- Clinical
- The vast majority are unilateral with less than 5 % occurring bilaterally.
- hypertension due to excessive renin production is found in up to 25% of patients
- acquired von Willebrand disease is seen in 8%
- Radiographic features
- Wilms tumours are usually large heterogeneous solid masses which displace adjacent structures.
- Occasionally they may be mostly cystic.
- Metastases are most commonly to lung (85%), liver and local lymph nodes 1.
- Similar to renal cell carcinoma tumour thrombus into the renal vein, IVC and right atrium is also characteristic of advanced disease.
- Associations
- Although most cases are sporadic and only 2% of cases are familial, a number of associations are recognised 1,2:
- overgrowth syndromes (WT2 gene)
- Beckwith-Wiedemann syndrome
- Perlman syndrome
- Simpson-Golabi-Behmel syndrome
- Sotos syndrome
- non-overgrowth syndromes (WT1 gene)
- WAGR syndrome
- Denys-Drash syndrome
- Frasier syndrome
- Bloom syndrome 13
- isolated abnormalities:
- cryptorchidism: 3%
- hemihypertrophy: 3%
- hypospadias: 2%
- sporadic aniridia
- renal fusion
- Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 5957
- overgrowth syndromes (WT2 gene)
- Although most cases are sporadic and only 2% of cases are familial, a number of associations are recognised 1,2:
- look for nephroblastomatosis in bilateral wilms
- MRI images of bilateral nephroblastomatosis enhancing the diffuse homogeneity and the rind-like peripheral location of the lesions (a) compared with the heterogeneity and round shape of bilateral WT (b). The left kidney seems suitable to a nephron sparing surgery as the mass arises from the superior pole above the left pedicle (b). Corresponding apparent diffusion coefficient (ADC) maps demonstrate low ADC in both kidneys with nephroblastomatosis (c) but different ADC values between the right solid nephroblastoma and the left cystic tumour (d).
What is this?
Cause/pathology
Associations
Scimitar syndrome
- AKA
- hypogenetic lung syndrome
- Features
- hypoplastic lung
- drained by an anomalous pulmonary vein into the systemic venous system
- It is a type of partial anomalous pulmonary venous return
- one of the several findings in congenital pulmonary venolobar syndrome.
- Clinical
- Infants present with signs of heart failure, which may be due to associated congenital heart disease 13.
- Adults are most frequently asymptomatic but may have recurrent pulmonary infection or dyspnoea on exertion.
- Pathology
- It is essentially a combination of pulmonary hypoplasia and partial anomalous pulmonary venous return (PAPVR).
- It almost exclusively occurs on the right side.
- Haemodynamically, there is an acyanotic left to right shunt. The anomalous vein usually drains into:
- inferior vena cava: most common
- right atrium
- portal vein
- In some variants, the abnormal lung segment may receive arterial blood supply from the aorta or its branches
- Some cases may show the anomalous systemic arteries supplying an area of associated pulmonary sequestration
Associations
- congenital heart disease, e.g. ASD, VSD, tetralogy of Fallot, patent ductus arteriosus
- ipsilateral diaphragmatic anomalies, e.g. accessory diaphragm, diaphragmatic hernia
- localised bronchiectasis
- horseshoe lung
- vertebral anomalies, e.g. hemivertebrae 4
- genitourinary tract abnormalities 4
- pulmonary sequestration 10
Plain radiograph
- small, hypoplastic lung
- with ipsilateral mediastinal shift,
- and in one-third of cases, the anomalous draining vein may be seen as a tubular structure parallelling the right heart border in the shape of a Turkish sword (“scimitar”).
- The right heart border may be blurred.
TREVORS DISEASE
- Intra articular Osteocondroma
- Dysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a developmental bone disease of childhood. It is rare and clinical experience with this condition is limited. Most cases are diagnosed before 8 years of age. It is characterized by an abnormal growth of cartilage arising from the cartilage of the terminal ends (epiphysis) of the long bones, particularly of the lower limbs. The bones of the knee and ankle joints are most commonly affected, as well as part of the foot (tarsal bones). The upper limbs and spine are rarely involved. The abnormal cartilage produces an irregular nodular mass located either in the medial or lateral part of the bone (hemimelic), usually medial. DEH may affect a single bone (localized form), multiple bones in a single limb (classical form) or an entire limb (generalized) usually involving a leg from the pelvis to the foot. Approximately two-thirds of affected children have multiple lesions. DEH was first described in the medical literature in 1926. Trevor recognized this condition in 1950. The name, dysplasia epiphysealis hemimelica first appeared in the medical literature in 1956.
- Definition
- Clinical presentation
- Pathology
- DDx
- Congenital Pulmonary Airway Malformation
- Definition:
- Formerly “congenital cystic adeomatoid malformation”.
- multicystic masses of segmental lung tissue with abnormal bronchial proliferation.
- Part of the spectrum of bronchopulmonary foregut malformations. a
- CLINCIAL PRESENTATION:
- May be identified on Antenatal USS
- Resp distress
- If large can cause pulmonary hypoplasia
- recurrent chest infection.
- PATHOLOGY
- Failure of normal bronchoalveolar development. Hamatomatous prolifertation of terminal respiratory units in a gland like pattern (adenomatoid) without proper alveolar formation. Proliferation of polyploid glandular lung tissue without normal alveolar differentiation. Respiratory distress occurs during first days of life.
- Histologically characterised by andemoatoiud proliferation of bronchiole like structures and macro-or micro- cysts lined by columnar or cuboidal epithelium.
- Have intracystic communications and unlike bronchogenci cysts can also have a connection to the rteracheobronchial tree.
- ASSOCIATIONS:
- Hybrid lesion: CPAM and Pulmonary sequestration
- Renal agenesis
- Polyhydramnious
- Hydrops fetalis
- Lung malignancy
- 10% of paediatric lung cancers have a hx of CPAM. BAC (Type CPAM, Pleuropyulmonary blastoma associated with type 4 CPAM).
- DDX
- Bronchogenic cyst
- does not usually communicate with the bronchial tree and therefore typically not air filled.
- Pulmonary sequestration:
- systemic arterial supply
- Hybrid lesions may present with both CPAM and sequestration features.
- Con. diaphragmatic herniation
- Congential lobar emphysema
- hyperlucent and hyperinflated lung segment
- no cystic or solid components
- Localised congenital cystic bronchiectasis.
- Bronchogenic cyst
Rad findings
Associations
- Dandy Walker Malformation
- insult to developing certebral um and fourth ventricel
- COngenital atresia of the foraminal of magendie and luschka
- Mortality rate 25-50%
Classically Dandy-Walker malformation consists of the triad of:
- hypoplasia of the vermis and cephalad rotation of the vermian remnant
- cystic dilatation of the fourth ventricle extending posteriorly; usually the cerebellar hemispheres are displaced anterolaterally, but with a normal size and morphology 11
- enlarged posterior fossa with torcular-lambdoid inversion (torcular lying above the level of the lambdoid due to abnormally high tentorium)
In 75-90% of patients, obstructive hydrocephalus is evident by three months of age 2,11, in many cases due to aqueduct stenosis 10. CSF flow study is recommended to better assess the hydrodynamic changes and identify eventual aqueductal stenosis association, which cannot be treated by cystoperitoneal shunt placement 11.
- Dandy walker spectrum
- ie a mild form of DW malformation
- posterior fossa cyst with partially formed fourth ventricle and mildl verminal hypoplasia
- The fourth ventrical is no as dilatated as in the DW malformation because it communicates freeliy with the basal cisternal though a patent foramen of majendie. More common than DW malformation.
- Fourth ventricle communicates dorsally with enlarged cisternal magna: keyhole deformity.
- Hydrocephalus not common
- Posterior fossa not enlarged.
Associations
- non-syndromic CNS: in ~70% of cases other CNS abnormalities are present, including 2
- cortical dysplasia, polymicrogyria, or subependymal grey matter heterotopia
- dysgenesis of the corpus callosum
- lipoma of the corpus callosum
- holoprosencephaly
- schizencephaly
- occipital encephalocele: less than 5% 2
- lumbosacral meningocele
- syringomyelia
- non-syndromic non-CNS: found in ~25% of patients 2
- cleft palate
- facial angiomas
- low-set ears
- polydactyly or syndactyly
- cardiac anomalies 5
- syndromic non-aneuploidic associations
- Aicardi syndrome
- Coffin-Siris syndrome
- Cornelia de Lange syndrome
- Fryns syndrome
- hydrolethalus syndrome
- Klippel-Feil syndrome
- Meckel-Gruber syndrome
- Smith-Lemli-Opitz syndrome 7
- Walker-Warburg syndrome
- aneuploidic associations
- Emanuel syndrome 12,13
- trisomy 18
- trisomy 13
- triploidy
Case courtesy of Dr Ian Bickle, Radiopaedia.org, rID: 23241
What is the pathology of DDH?
- Developmental dysplasia of the hip
- Increased joint laxity inutero
- leads to abnormal joint congruity
- this leads to hypertrophied fibrocartilage in the superlateral aspect of the acetabulum (NEOLIMBUS)
- The femoral head is able to glide out of the acetabulum generating the palpable clunk - ortolani sign.
what is this?
clinical triad
- Ataxia-telangiectasia is a rare multisystem disorder that carries an autosomal recessive inheritance, sometimes classified as a phakomatosis. It is characterised by multiple telangiectasias, cerebellar ataxia, pulmonary infections, and immunodeficiency.
- On brain imaging, it usually demonstrates vermian atrophy, compensatory enlargement of the fourth ventricle, cerebral infarcts and cerebral haemorrhage secondary to ruptured telangiectatic vessels.
-
Clinical presentation
-
The main clinical characteristics include:
- cerebellar ataxia: progressive and present in all cases
- oculomucocutaneous telangiectasias
- greater susceptibility to types of infection (partial combined immunodeficiency 3) and neoplasms
-
The main clinical characteristics include:
- *
- MRI
MRI typically demonstrates cerebellar volume loss and compensatory enlargement of the 4th ventricle.
Additionally, scattered small white matter T2 hypointensities are often identified in patients with ataxia telangiectasia, most likely representing tiny haemosiderin deposits related to thrombosis and vascular leaks from telangiectatic vessels 5,11. This imaging appearance can also be seen in amyloid angiopathy, disseminated intravascular coagulopathy and multiple cavernomas 6. “Gliovascular nodules” within the white matter have previously been described and consist of dilated capillary loops with perivascular haemorrhages and haemosiderosis, surrounded by reactive fibrosis and demyelinated white matter7.
Diffuse T2/FLAIR hyperintense signal within the cerebral white matter consistent with demyelination and gliosis has previously been described in ataxia telangiectasia and may reflect ischaemia and white matter degeneration due to vascular abnormalities 11, severe oligodendrocyte and myelin loss 8, coagulation necrosis 9 and leukodystrophy 10. A recent study using MR spectroscopy of adult patients with ataxia telangiectasia suggests that the white matter T2/FLAIR hyperintense signal abnormality is secondary to reduced cellularity rather than active demyelination or ischaemia 11.
Given that this is a case of an adult brain, the diagnosis of AT may elude the radiologist as patients with the classic form of AT usually do not survive beyond childhood. The presence of diffuse white matter T2/FLAIR signal abnormality and disproportionate cerebellar atrophy clinches the diagnosis of variant ataxic telangiectasia.
Case courtesy of Danielle Byrne, Radiopaedia.org, rID: 50830
what is this?
anatomy
complications
association
- Pulmonary Sling
- AKA Anomalous origin of the left pulmonary artery
- left PA arises from the right PA (not the Pulm trunk)
- passes between the trachea and the esophagus as it courses to the left lung.
- The resultant sling compresses the trachea. Pulmonary sling is the only vascular anomaly to course between the trachea and the esophagus.
- It causes compression of the posterior trachea and anterior esophagus.
- Only vascular cause of airway compression gthat is associated with asymmetric lung inflation on chest radiographs
- Case courtesy of Dr Vincent Tatco, Radiopaedia.org, rID: 42323
Death 25%
spastic hemipelgia or wadripelgia
epilepsy.
SDH is an indicatory of sustpectied AHT in
sutural splaing
Abusive head trauma is a term that is used for inflicted head injury that has occurred by either shaking, impact head trauma, or both, as part of the spectrum of non-accidental injury (NAI).
Pathology
Intracranial injuries
Subdural haemorrhage in a child should be viewed with suspicion. Most often, the subdural haemorrhages will demonstrate varying ages.
A potential pitfall is interpreting subdural hygroma in a patient with benign enlargement of the subarachnoid spaces (BESS) as suggestive of NAI without other stigmata 9.
Case courtesy of Dr Tony Lamont, Radiopaedia.org, rID: 17753
- Sequestration
TYPES
- Intra lorbar (Syst …, Pulm Venals Drainage)
- Extra lobar (System …., System Venous)
- Infantile hepatic haemangiomas (IHH) are liver lesions composed of large endothelial-lined vascular channels seen in fetuses and neonates. Not to be confused with hepatic epithelioid haemangioendothelioma, which occurs in older patients.
- Terminology
- These benign tumours were previously referred to as hepatic infantile haemangioendotheliomas, but as they are similar to haemangiomas elsewhere in the body, they have been reclassified as haemangiomas by the International Society for the Study of Vascular Anomalies (ISSVA).
- Epidemiology
- Infantile hepatic haemangiomas occur in fetuses and neonates and have been detected in utero as early as at 16 weeks of gestation. It is the most frequent liver mass in infants (<6 months).
- Clinical presentation
- Infantile hepatic haemangiomas have substantial arteriovenous shunting which may lead to fatal cardiovascular compromise and hydrops fetalis. It may present as hepatomegaly since the entire liver is involved in most cases.
- In addition, fetuses may also develop haemolytic anaemia, thrombocytopenia, and consumptive coagulopathy (Kasabach-Merritt sequence).
- If these tumours are not detected prenatally, neonates may present with unexplained congestive heart failure.
- Pathology
- Infantile hepatic haemangiomas are histologically similar to haemangiomas (strawberry naevus) but distinct from both adult type cavernous haemangiomas which are venous malformations and angiosarcomas.
- Markers
- In 3% of cases, there is elevated serum alpha-fetoprotein 6.
- Associations
- hypothyroidism: probably due to high levels of type 3-iodothyronine deiodinase activity produced by haemangiomas 3
- haemangiomas elsewhere in 10% of cases
- Radiographic features
- Plain radiograph
- Non-specific features such as hepatomegaly and liver calcifications, present in ~15% of the cases, may be seen. Indirect signs of congestive heart failure may be present on a chest radiograph.
- Ultrasound
- Infantile hepatic haemangiomas have a variable sonographic appearance and can be either hypoechoic or hyperechoic or may display mixed echogenicity with prominent vascular channels. Colour Doppler sonographic evaluation will show increased flow.
- CT
- There is typical peripheral enhancement with gradual filling-in. Another characteristic finding is a reduction in the aortic calibre (mid-aortic syndrome) distal to the level of the coeliac axis because of the important vascular distribution toward the liver. The same process will cause coeliac trunk and hepatic artery hypertrophy.
- MRI
- Multifocal haemangiomas are spherical lesions with homogeneous signal intensity on MRI. Large flow voids are usually present. Typical signal characteristics include:
- T1: hypointense 3
- T2: hyperintense 3
- They generally demonstrate uniform enhancement and may demonstrate the same vascular changes as seen on CT.
- Treatment and prognosis
- The natural history of infantile hepatic haemangiomas in infancy is a rapid, proliferative growth phase in the first six months of life, followed by regression and involution.
- If the child remains asymptomatic, no treatment may be needed.
- If symptoms of high output cardiac failure occur, the first line of therapy is propranolol. If medical treatment fails, the lesions may be embolised to control any arteriovenous shunting causing cardiac failure.
- Differential diagnosis
- hepatoblastoma
- elevated alpha-fetoprotein
- not common in neonates
- neuroblastoma metastasis: usually multiple
- mesenchymal hamartoma (usually seen as multilocular cystic mass
- hepatoblastoma
Supratentorial tumours
- Case courtesy of Dr Wael Nemattalla, Radiopaedia.org, rID: 9227Most common phakomatosis (1:3000)
- 50% AD, 50% spontaneuous mutations
- Dusplaisa of mesodermal and neuroectoderma tissue.
- Diagnostic Criteria
- need >2
- Cafe au lait spots x 6
- pigmented iris hamartomas x 2
- Axillary ngunal freckling
- ? NF
- Opti nerve gloma
- First degree relative
- Dysplasia of greater wing of sphenoid
- need >2
- Imaging features
- Optic nerve gliomas
- low grade pilocytic astrocytoma with variable enhancement
- lower grade brainstem gliomas
- non
*
- Optic nerve gliomas
- Insp & Exp veins if child can comply
- Decubitus if child can’t comply
- Bull valve mech
- Air trapping in the effected lung
Porencephaly is a rare congenital disorder that results in cystic degeneration and encephalomalacia and the formation of porencephalic cysts. The term is used variably among radiologists with its broadest definition being a cleft or cystic cavity within the brain 9, and its more narrow definition being a focal cystic area of encephalomalacia that communicates with the ventricular system and/or the subarachnoid space.
Terminology
The necessity of a cyst communicating with the ventricular system and/or subarachnoid space to earn the designation porencephaly is a point of contention amongst neuroradiologists. Some authors use the term for cysts whether or not communication exists, and thus there is significant overlap with encephalomalacia. Others reserve the term for cysts that communicate with at least one space, in which case they divide porencephalic cysts into internal (communicating with the ventricle) or external (communicating with the subarachnoid space). Still, others require communication with both.
For the purpose of this article, the term porencephaly is taken to mean the following: a cystic lesion of the brain due to an encephaloclastic insult (e.g. intrauterine infections and ischaemia), lined by white matter, which communicates with the ventricles and/or the subarachnoid space.
Clinical presentation
As can be expected from the knowledge that porencephalic cysts vary widely in size and location, clinical manifestations are also variable. Patients with porencephalic cysts range from asymptomatic, to profoundly impaired.
Often signs and symptoms become evident in the first year of life, with spasticity and seizures being common early manifestations. Language impairment, intellectual disability, and motor deficits are also frequently encountered 10.
Head circumference is variable. It may be normal or small, or alternatively, synechiae can create a one-way valve effect with progressive enlargement of the cyst and skull expansion or hydrocephalus, resulting in an enlarged head.
Pathology
Porencephalic cysts are an uncommon congenital finding. The cysts are typically lined by white matter. They are thought to occur from focal encephalomalacia due to a localised cerebral insult most frequently during early gestation. Gliosis will develop if the insult is late enough, usually thought to be after the start of the third trimester, although perhaps insults as early as 20 weeks of gestation may result in gliosis 11.
Aetiology
perinatal cerebral ischaemia
trauma
infection
antenatal intraparenchymal haemorrhage 4
familial porencephaly: mutations in the COL4A1 gene (a COL4A1-related disorder) leading to fragile blood vessels causing antenatal/perinatal haemorrhagic strokes
Pleural vs Parenchymal mass
Vein of galen aneurysm
T2 weighted images from a fetal MRI demonstrate a large flow void in the region of the vein of Galen. The fetal heart is enlarged.
Case Discussion
This is an example of a vein of Galen malformation, diagnosed in utero. The enlarged heart suggests high output cardiac failure, a complication of these malformations.
Case courtesy of Dr. Sheri L Harder, Radiopaedia.org, rID: 94385
- inherited condition involving the brain and spinal cord.
- Primarily effects males. x linked
- Leukodystrophy
- Hypomyelination
- Clinical presentation
- hypotonia
- nystagmus
- Developmental delay (motor)
- Developmental regression.
- PLEASE ZEUS, GIVE MY MERCEDES BACK as it doesn’t have any plastic.
- Pelizaeus-Merzbacher Disease is a rare leukodystrophy that results from an abnormality of PLP1 gene on chromosome Xq22 coding for proteolipid protein 1 and a smaller protein (DM20), two primary components of myelin.
PMD has a “classic” form as well a more severe form known as “connatal” form. The classic form shows X-linked recessive inheritance, and patients usually present in first year of life with nystagmus, delayed motor and cognitive milestones, and ataxia. The connatal form shows either autosomal or X-linked recessive inheritance and usually presents at birth or in early infancy. In addition to nystagmus and extrapyramidal hyperkinesia, patients have spasticity, optic atrophy and seizure. Patients with classic form usually live until late adolescence or early adulthood, but in connatal form, death usually occurs in early childhood.
There is a group of patients with similar clinical presentation but normal appearing white matter at biopsy and on MRI and no evidence of mutation of PLP1 gene. These group of patients are considered to have Pelizaeus-Merzbacher-like disease.
Key Diagnostic Features: PMD appears as low signal intensity white matter on CT scan, and on MRI, it appears as lack of myelination as opposed to myelin destruction. Depending on the severity of the disease, there might be some myelination within internal capsules, optic radiations and proximal corona radiata. In severe cases, there could be complete absence of low T2 signal intensity within the white matter. The cerebellum may be markedly atrophic. MRI cannot differentiate classic form from connatal form although it has been noted that some degree of myelination is seen in patients with the classic form, whereas no evidence of myelin is seen in connatal form.
- http://www.ajnr.org/content/cow/04042011
Chest wall mesenchyma hamatoma
Ileal atresia
ddx
ddx microcolon
- mec ileus
- ??? ileal atresia
- Hirschsprungs
What is this?
- Ultrasound images demonstrate a pyloric muscle wall thickness of 4 mm. The pyloric channel length measures 13 mm. The stomach is distended with fluid. This combination of findings is consistent with hypertrophic pyloric stenosis.
- Sonographic diagnostic criteria include single muscular wall thickness (hypoechoic) of 3 mm or greater and/or pyloric length of 15 mm or greater.
- Real-time ultrasound can show failure of gastric contents to pass through the pyloric channel; however, this finding can be seen in pylorospasm. Right lateral decubitus positioning may be useful to visualize the pyloric area.
- Hypertrophic pyloric stenosis refers to gastric outlet obstruction resulting from abnormal thickening and elongation of the pyloric sphincter musculature.
- Usually presents between 2 weeks and 12 weeks of age with projectile nonbilious emesis. On physical exam, the thickened pyloric channel can present as a palpable mass with the size of an olive.
- Radiographs usually demonstrate “single bubble sign,” which represents distention of the stomach with a paucity of bowel gas.
Lymphatic malfor
mation
Causes of congenital upper airway obstruction
- CHAOS
- constellation off ffindings resulting from this form of airway obstruction.
- in utero laryngeal atresia
- subglottic stenosis
- head and neck masses obstrucitng the upper airway (lymphatic malformations or teratomas)
Imaging findings:
- massive increases in lung volumes,
- flattened or everted hemidiaphragms
- hydrops
- polyhydramnios
